Results 81 to 90 of about 3,973 (174)

Cardiomyopathy as the first manifestation of Friedreich’s ataxia

Autopsy and Case Reports, 2021
We present the case of a female patient diagnosed in childhood with Friedreich Ataxia (FA). At the age of 6, she developed left congestive heart failure with cardiomyopathy, as evident on echocardiogram. Neurologic signs only appeared at age 7, including
Rafael Tuzino Leite Neves Maffei, Giulio de los Santos Fortuna, Luca Campolino Rosso, Pedro Dragone Pires , Ivan Rondelli   +4 more
doaj  

Novel Mitochondrial Homoplasmic T4216C Mutation in Iranian Patients with Friedreich Ataxia

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2010
Introduction: The mitochondrial defects in Friedreich ataxia (FRDA) have been reported in many researches. Friedreich ataxia is an autosomal recessive neurodegenerative disorder caused by decreased expression of the Frataxin protein.
M Heidari, M Khatami
doaj  

Tissue Iron in Friedreich Ataxia

Journal of Integrative Neuroscience
Heart, dentate nucleus, and dorsal root ganglia (DRG) are targets of tissue damage in Friedreich ataxia (FA). This report summarizes the histology and histopathology of iron in the main tissues affected by FA.
Arnulf H Koeppen
doaj   +1 more source

Análisis molecular en pacientes colombianos con Ataxia de Friedreich

Acta Biológica Colombiana, 2001
Identificar entre los pacientes que sufren algún tipo de ataxia hereditaria, las formas progresivas tipo Friedreich (FRDA), determinando el tipo de herencia y correlacionar el genotipo encontrado con las manifestaciones genonpicas.
C. Durán, M. Gómez, O. Pedraza, J.C. Prieto   +3 more
doaj  

Enfermedad cardiovascular en pacientes cubanos afectados por Ataxia de Friedreich.

Ciencias Holguín, 2010
Al describir la ataxia de Friedreich, Nicholaus hizo referencia a la patología cardiaca. Esta enfermedad autosómica recesiva se debe a una mutación dinámica en el gen FRDA, codificándose deficientemente la proteína Frataxina, conduciendo a estrés ...
Tania Cruz Mariño, Ana Luz Portelles Caminero, William Áreas Zalazar, Luís Velázquez Pérez   +3 more
doaj  

Polyphenol-Enriched Fraction from Chestnut Shells as a Source of Bioactive Compounds for Friedreich Ataxia. [PDF]

Molecules
Squillaci G, Cotticelli GM, Carbone V, Westfall AO, Wilson RB, Morana A.   +5 more
europepmc   +1 more source

Friedreich's Ataxia

Atencion primaria, 2009
Robert J. Desnick, Orlando Guntinas-Lichius, George W. Padberg, Gustav Schonfeld, Xiaobo Lin, Maurizio Averna, Pin Yue, John-John B. Schnog, Victor E. A. Gerdes, Pedro R. Cutillas, Robert J. Unwin, Heike Schulze, Konrad Sandhoff, Jean-François Pellissier, Georges Serratrice, Dominique Figarella-Branger, Cord Sunderkötter, Marcelo Gustavo Binker, Laura Iris Cosen-Binker, Matthias Wettstein, Peter von den Driesch, Rima Nabbout, Massimo Mantegazza, Olivier Dulac, Johann Michael Schröder, Ho Sung Kang, Johann Michael Schröder, Marina Marchetti Hugo Ten Cate, Marina Marchetti, Hugo ten Cate, Lev I. Patrushev, Lee S. Weinstein, Adiba Isa, Fernando Azpiroz, Guang-Sheng Li, Ling Jing, Hui Xu, Anne M. Molloy, John M. Scott, Cord Sunderkötter, Axel Lorentz, Stephan C. Bischoff, Filippo Tamanini, Filippo Tamanini, Thomas Klockgether, Derek A. Wong, Jürgen Kopitz, Carolina von Reitzenstein, Michael Cantz   +48 more
openaire   +3 more sources

Spatial perspective taking is impaired in spinocerebellar ataxias and Friedreich ataxia. [PDF]

Sci Rep
Karamazovova S, Laczó M, Matuskova V, Svecova N, Stovickova L, Blichova Z, Paulasova Schwabova J, Kuzmiak M, Laczó J, Vyhnalek M.   +9 more
europepmc   +1 more source

Friedreich Ataxia and Related Diabetes: Therapeutic Approach Targeting Mitochondrial Dysfunction. [PDF]

JCEM Case Rep
Sureshkumar P, Kumar SS, Cheriyan J, Masood A.   +3 more
europepmc   +1 more source

Delphi study to elicit expert consensus around decision-making in the treatment of Friedreich ataxia. [PDF]

Front Neurol
Kuo SH, Tian C, McKay J, England SM, Simon M, Graf M, Brewer IP, Land N, Chou JW, Lawson R.   +9 more
europepmc   +1 more source